muscular dystrophy-dystroglycanopathy type C8

Term ID

DOID:0112382

Synonyms

• autosomal recessive limb-girdle muscular dystrophy 24
• LGMDR24
• muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
• muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related

Definition

A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. https://pubmed.ncbi.nlm.nih.gov/27066570/

References

• OMIM:618135

Ontology

Human Disease   ( DOID:0112382 )